1-161000762-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_016946.6(F11R):c.257G>A(p.Arg86Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000013 in 1,613,984 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016946.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
F11R | NM_016946.6 | c.257G>A | p.Arg86Gln | missense_variant | Exon 4 of 10 | ENST00000368026.11 | NP_058642.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
F11R | ENST00000368026.11 | c.257G>A | p.Arg86Gln | missense_variant | Exon 4 of 10 | 1 | NM_016946.6 | ENSP00000357005.5 | ||
ENSG00000270149 | ENST00000289779.7 | n.*298G>A | non_coding_transcript_exon_variant | Exon 7 of 13 | 2 | ENSP00000289779.4 | ||||
ENSG00000270149 | ENST00000289779.7 | n.*298G>A | 3_prime_UTR_variant | Exon 7 of 13 | 2 | ENSP00000289779.4 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152106Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251340Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135828
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461878Hom.: 0 Cov.: 33 AF XY: 0.0000138 AC XY: 10AN XY: 727242
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152106Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74290
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.257G>A (p.R86Q) alteration is located in exon 4 (coding exon 4) of the F11R gene. This alteration results from a G to A substitution at nucleotide position 257, causing the arginine (R) at amino acid position 86 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at